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Uniparental isodisomy 6 associated with deficiency of the fourth component of complement.

作者信息

Welch T R, Beischel L S, Choi E, Balakrishnan K, Bishof N A

机构信息

Department of Pediatrics, University of Cincinnati, Ohio.

出版信息

J Clin Invest. 1990 Aug;86(2):675-8. doi: 10.1172/JCI114760.

DOI:10.1172/JCI114760
PMID:2384609
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC296776/
Abstract

We identified an extremely rare condition, isolated complete deficiency of the fourth component of complement, in a child with systemic lupus erythematosus. The genes for C4 are located within the major histocompatibility complex (MHC) on the short arm of chromosome 6. The patient expressed only paternal phenotypes for proteins encoded by the MHC (HLA and GLO), yet was 46XX with no detectable 6p deletion. Genomic DNA from patient, parents, and sibling was digested with restriction enzymes, and blots were probed for five chromosome 6 markers. At all loci, maternal and paternal RFLPs could be distinguished, and the patient showed only paternal bands. RFLP analysis of markers from four other chromosomes showed maternal and paternal contribution. The data are consistent with uniparental isodisomy 6 (inheritance of two identical chromosome 6 haplotypes from the father and none from the mother). Direct analysis of genetic material from both parents, as well as detection of multiple protein polymorphisms encoded on chromosome 6, clearly demonstrates this novel mechanism for the expression of a recessive genetic condition.

摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a720/296776/32638604db56/jcinvest00074-0304-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a720/296776/7ccfef0aa1a5/jcinvest00074-0304-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a720/296776/32638604db56/jcinvest00074-0304-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a720/296776/7ccfef0aa1a5/jcinvest00074-0304-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a720/296776/32638604db56/jcinvest00074-0304-b.jpg

相似文献

1
Uniparental isodisomy 6 associated with deficiency of the fourth component of complement.
J Clin Invest. 1990 Aug;86(2):675-8. doi: 10.1172/JCI114760.
2
Major histocompatibility complex extended haplotypes in systemic lupus erythematosus.系统性红斑狼疮中的主要组织相容性复合体扩展单倍型
Dis Markers. 1988 Oct-Dec;6(4):247-55.
3
DNA analysis in a MHC heterozygous patient with complete C4 deficiency--homozygosity for C4 gene deletion and C4 pseudogene.
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4
Linkage between the gene (or genes) controlling synthesis of the fourth component of complement and the major histocompatibility complex.控制补体第四成分合成的基因与主要组织相容性复合体之间的连锁关系。
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5
A rare complement component C4 restriction fragment length polymorphism in two families with systemic lupus erythematosus.两个系统性红斑狼疮家族中罕见的补体成分C4限制性片段长度多态性
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6
DNA polymorphism of the C4 genes. A new marker for analysis of the major histocompatibility complex.C4基因的DNA多态性。一种用于分析主要组织相容性复合体的新标记。
N Engl J Med. 1984 Jan 12;310(2):88-91. doi: 10.1056/NEJM198401123100204.
7
Restriction fragment analysis of duplication of the fourth component of complement (C4A).补体第四成分（C4A）重复的限制性片段分析
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8
Deficiency of human complement protein C4 due to identical frameshift mutations in the C4A and C4B genes.由于C4A和C4B基因中相同的移码突变导致人类补体蛋白C4缺乏。
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[Systemic lupus erythematosus in hereditary complement 4 deficiency].
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J Clin Invest. 1984 Oct;74(4):1509-14. doi: 10.1172/JCI111564.

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CD45-deficient severe combined immunodeficiency caused by uniparental disomy.CD45 缺陷型重症联合免疫缺陷症由单亲二体性引起。
Proc Natl Acad Sci U S A. 2012 Jun 26;109(26):10456-61. doi: 10.1073/pnas.1202249109. Epub 2012 Jun 11.
3
Paternal uniparental isodisomy of chromosome 6 causing a complex syndrome including complete IFN-gamma receptor 1 deficiency.

本文引用的文献

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A new genetic concept: uniparental disomy and its potential effect, isodisomy.一个新的遗传学概念：单亲二体及其潜在影响——同二体。
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Inherited structural polymorphism of the fourth component of human complement.人类补体第四成分的遗传性结构多态性。
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Polymorphic DNA region adjacent to the 5' end of the human insulin gene.人类胰岛素基因5'端相邻的多态性DNA区域。
父源单亲二体性 6 号染色体导致复杂综合征，包括完全 IFN-γ 受体 1 缺陷。
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The ratio of maternal to paternal UPD associated with recessive diseases.与隐性疾病相关的母源单亲二倍体与父源单亲二倍体的比例。
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Parents of children with autosomal recessive diseases are not always carriers of the respective mutant alleles.患有常染色体隐性疾病的孩子的父母并不总是相应突变等位基因的携带者。
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Distribution of mosaicism in human placentae.人类胎盘嵌合体的分布
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The origin of mosaic Down syndrome: four cases with chromosome markers.嵌合型唐氏综合征的起源：四例伴有染色体标记的病例
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Serotyping for homotransplantation. 18. Refinement of microdroplet lymphocyte cytotoxicity test.同种移植的血清分型。18. 微滴淋巴细胞细胞毒性试验的改进。
Transplantation. 1968 Nov;6(8):913-27. doi: 10.1097/00007890-196811000-00006.
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Mapping of steroid 21-hydroxylase genes adjacent to complement component C4 genes in HLA, the major histocompatibility complex in man.人类主要组织相容性复合体HLA中，类固醇21-羟化酶基因与补体成分C4基因的定位。
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The effect of null C4 alleles on complement function.
Clin Immunol Immunopathol. 1985 Mar;34(3):316-25. doi: 10.1016/0090-1229(85)90180-1.
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A genetic linkage map of the human genome.人类基因组的遗传连锁图谱。
Cell. 1987 Oct 23;51(2):319-37. doi: 10.1016/0092-8674(87)90158-9.
10
Lupus diseases associated with hereditary and acquired deficiencies of complement.与遗传性和获得性补体缺陷相关的狼疮疾病。
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